Canonical Allele Identifier: CA2432867

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52332195T>C , CM000665.2:g.52332195T>C	GRCh38
NC_000003.11:g.52366211T>C , CM000665.1:g.52366211T>C	GRCh37
NC_000003.10:g.52341251T>C	NCBI36
NG_052911.1:g.20877T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.1087T>C MANE Select	NP_056327.4:p.Phe363Leu
ENST00000420323.7:c.1087T>C MANE Select	ENSP00000401514.2:p.Phe363Leu
NM_015512.4:c.1087T>C	NP_056327.4:p.Phe363Leu
ENST00000420323.6:c.1087T>C	ENSP00000401514.2:p.Phe363Leu
ENST00000486752.5:n.1348T>C
ENST00000497875.1:n.1252T>C
XM_011533577.1:c.1087T>C	XP_011531879.1:p.Phe363Leu
XM_017006129.1:c.1087T>C	XP_016861618.1:p.Phe363Leu
XM_017006130.1:c.1087T>C	XP_016861619.1:p.Phe363Leu
XM_017006131.1:c.1087T>C	XP_016861620.1:p.Phe363Leu
XM_017006132.1:c.1087T>C	XP_016861621.1:p.Phe363Leu
XM_017006133.1:c.1087T>C	XP_016861622.1:p.Phe363Leu
XR_001740098.1:n.4236T>C
XR_001740099.1:n.4236T>C